MCID: ECT023
MIFTS: 17

Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

MalaCards integrated aliases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

Name: Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 57 19
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 58
Christianson-Fourie Syndrome 58

Characteristics:


Inheritance:

Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type: Autosomal dominant 57
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type: Autosomal dominant 58

Prevelance:

Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 601375
MESH via Orphanet 44 C536180
ICD10 via Orphanet 32 Q82.8
UMLS via Orphanet 72 C1832411
Orphanet 58 ORPHA1808
MedGen 40 C1832411

Summaries for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

GARD: 19 Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.

MalaCards based summary: Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type, is also known as hidrotic ectodermal dysplasia, christianson-fourie type. Affiliated tissues include skin, and related phenotypes are sparse scalp hair and nail dystrophy

Orphanet: 58 Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.

More information from OMIM: 601375

Related Diseases for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Symptoms & Phenotypes for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002209
2 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
3 sparse eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000653
4 absent eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002223
5 onychogryposis of toenails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008401
6 sparse axillary hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002215
7 sparse pubic hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002225
8 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
9 abnormality of the nail 58 Very frequent (99-80%)
10 abnormality of the hair 58 Very frequent (99-80%)
11 hidrotic ectodermal dysplasia 30 HP:0007529
12 onychogryposis 30 HP:0001805
13 bradycardia 30 HP:0001662
14 fair hair 30 HP:0002286
15 paroxysmal supraventricular tachycardia 30 HP:0004763
16 short eyelashes 30 HP:0010764

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Cardiac:
bradycardia
episodic supraventricular tachycardia

Skin:
normal sweating
no skin defects

Nails:
dystrophic thickened nails
unattached distal half of nails

Teeth:
normal teeth

Hair:
absent eyebrows
short, thin, sparse, pale scalp hair
short, sparse eyelashes
sparse axillary and pubic hair

Clinical features from OMIM®:

601375 (Updated 24-Oct-2022)

Drugs & Therapeutics for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Genetic Tests for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Anatomical Context for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Organs/tissues related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

MalaCards : Skin

Publications for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Articles related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type:

# Title Authors PMID Year
1
Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome? 57
8826433 1996

Variations for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Expression for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Search GEO for disease gene expression data for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type.

Pathways for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

GO Terms for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

Sources for Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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